Vol. 30-31/2021-2022 Nr 60
okładka czasopisma Child Neurology
powiększenie okładki
Journal Info

CHILD NEUROLOGY

Journal of the Polish Society of Child Neurologists

PL ISSN 1230-3690
e-ISSN 2451-1897
DOI 10.20966
Semiannual


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Polymorphisms variants of the MTHFR C677T and PAI-1 5G/4G genes and their combinations in the group of children with arterial ischemic stroke


Polimorficzne warianty genów MTHFR C667T oraz PAI-1 5G/4G oraz ich kombinacje w grupie dzieci z udarem niedokrwiennym mózgu




*Neurological Department, City Clinical Children's Hospital Nº1 in Kyiv, Ukraine
** Institution Reference-centre for Molecular Diagnostic of Public Health Ministry of Ukraine, Kyiv, Ukraine,
***The National Medical Academy of Postgraduate Education State named after P.L. Shupyk, Kyiv, Ukraine

https://doi.org/10.20966/chn.2020.58.455
Neurol Dziec 2020; 29, 58: 27-32
Full text PDF Polymorphisms variants of the MTHFR C677T and PAI-1 5G/4G genes and their
combinations in the g



ABSTRACT
Introduction. Arterial ischemic stroke (AIS) in childhood is a disorder associated with different predisposing factors, thrombophilia is one of them. We present the study of the MTHFR C677T and PAI-1 5G/4G gene polymorphisms as a possible risk factor for the development of AIS in the group of Ukrainian children. Materials and methods. 77 children from 29 days to 15 years of age were involved in this study: study group - 44 children with AIS, and 33 in a control group. Children enrolled to both groups were at similar age. Results. In the study group there was an increase in the frequency of genotypes 677CT (OR = 2.69) and 677TT, CT + TT genotypes (OR = 3.67) of the MTHFR gene, increased frequency of the 677T allele (OR = 2.57). In the study group detection of 5G/5G + 5G/4G genotypes was higher (OR = 2.82) with statistically predominance of the 5G allele (OR = 2.26) of the gene PAI -1. Higher frequency of the combination of genotypes genes 677CT + 5G/5G was found in the main group. The model of interpreting interactions was built, it allows to predict indirectly the potential intergenic interactions. Conclusions. We conclude that risk of AIS is higher in children with polymorphic variants 677CT and 677TT for the MTHFR gene; the association of polymorphic variants 5G/4G and 5G/5G for the PAI-1 gene with a decrease in the risk of developing AIS; direct interaction with the MTHFR was found for PAI-1, but of weak strength

Key words: children, arterial ischemic stroke, MTHFR C677T gene polymorphism, PAI-1 gene polymorphism.


STRESZCZENIE
Wstęp: Udar niedokrwienny (AIS) jest rzadkim schorzeniem wieku dziecięcego, które wiąże się z różnymi czynnikami predysponującymi. Trombofilia jest jedną z ustalonych predyspozycji genetycznych do udaru w populacji pediatrycznej. Cel: Przedstawiamy badanie polimorfizmów genów MHFR C677T i PAI-1 5G / 4G jako potencjalnego czynnika ryzyka rozwoju AIS indywidualnie i łącznie w grupie dzieci ukraińskich. Materiał i metody Badaniem objęto 77 dzieci w wieku od 29 dni do 15 lat: grupa badana - 44 dzieci z AIS oraz grupa kontrolna - 33 dzieci zakwalifikowanych do obu grup znajdowały się w podobnym wieku. Wyniki: W badanej grupie stwierdzono większą częstość genotypów 677CT (OR = 2,69) i 677TT, genotypów CT + TT (OR = 3,67) genu MTHFR oraz większą częstość allelu 677T (OR = 2,57). W analizowanej grupie wykrywalność genotypów 5G / 5G + 5G / 4G była wyższa (OR = 2,82) przy statystycznej przewadze allelu 5G (OR = 2,26) genu PAI -1. Ponadto w analizowanej grupie pacjentów stwierdzono większą częstość kombinacji genotypów 677CT + 5G / 5G w porównaniu z grupą kontrolną. Wnioski: Uzyskane wyniki badań pozwalają na stwierdzenie, że ryzyko wystąpienia AIS u dzieci jest wyższe w przypadku obecności polimorficznych wariantów 677CT i 677TT dla genu MTHFR; z kolei skojarzenie wariantów polimorficznych 5G / 4G i 5G / 5G dla genu PAI-1 wiąże się ze zmniejszonym ryzykiem rozwoju AIS. Stwierdzono także występowanie bezpośredniej interakcji MTHFR z PAI-1, jednak o małej sile oddziaływania.

Słowa kluczowe: dzieci, udar niedokrwienny tętnic, polimorfizm genów MTHFR C677T, polimorfizm genów PAI-1


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